Descriptions

Focal adhesion kinase (FAK) is a non-receptor kinase that controls the migration, proliferation, and survival of cells. It contains an N-terminal FERM domain, a kinase domain, and a C-terminal focal adhesion-targeting (FAT) domain. LRRK2 directly binds to and phosphorylates the threonine 474 of FAK, thereby inhibiting the phosphorylation of FAK at tyrosine 397 residue, which is a marker of its activation. The T474 phosphorylation induces a conformational change, enabling its N-terminal FERM domain to autoinhibit Y397 phosphorylation. Deletion of the FERM domain increases Y397 phosphorylation.

Autoinhibitory domains (AIDs)

Target domain

415-684 (Catalytic domain of the Protein Tyrosine Kinase, Focal Adhesion Kinase)

Relief mechanism

PTM

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Accessory elements

563-587 (Activation loop from InterPro)

Target domain

422-680 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

40 structures for Q05397

Entry ID Method Resolution Chain Position Source
1K04 X-ray 195 A A 891-1052 PDB
1K05 X-ray 290 A A/B/C 891-1052 PDB
1MP8 X-ray 160 A A 411-686 PDB
1OW6 X-ray 235 A A/B/C 892-1052 PDB
1OW7 X-ray 260 A A/B/C 892-1052 PDB
1OW8 X-ray 285 A A/B/C 892-1052 PDB
2ETM X-ray 230 A A/B 411-689 PDB
2IJM X-ray 219 A A/B 411-689 PDB
3B71 X-ray 282 A A/B/C 891-1052 PDB
3BZ3 X-ray 220 A A 414-689 PDB
3PXK X-ray 179 A A/B 411-689 PDB
3S9O X-ray 260 A A/B/C 891-1052 PDB
4EBV X-ray 167 A A 411-686 PDB
4EBW X-ray 265 A A 411-686 PDB
4GU6 X-ray 195 A A/B 411-689 PDB
4GU9 X-ray 240 A A/B 410-686 PDB
4I4E X-ray 155 A A 411-686 PDB
4I4F X-ray 175 A A 411-686 PDB
4K8A X-ray 291 A A/B 410-686 PDB
4K9Y X-ray 200 A A 410-686 PDB
4KAB X-ray 271 A A/B 410-686 PDB
4KAO X-ray 239 A A/B 410-689 PDB
4NY0 X-ray 280 A A/B/C/D 31-405 PDB
4Q9S X-ray 207 A A 411-686 PDB
6I8Z X-ray 199 A A 411-689 PDB
6LES X-ray 200 A A/B/X/Y 805-832 PDB
6PW8 X-ray 195 A A 922-1047 PDB
6YOJ X-ray 136 A A 411-689 PDB
6YQ1 X-ray 178 A A/B/C/D 411-689 PDB
6YR9 X-ray 193 A A/B/C/D 411-689 PDB
6YT6 X-ray 154 A A/B 411-689 PDB
6YVS X-ray 181 A A/B/C/D 411-689 PDB
6YVY X-ray 192 A A/B/C/D 411-689 PDB
6YXV X-ray 230 A A/B/C/D 411-689 PDB
7PI4 X-ray 224 A DDD 415-687 PDB
7W7Z X-ray 215 A A 892-1052 PDB
7W8B X-ray 209 A A 892-1052 PDB
7W8I X-ray 194 A A 892-1052 PDB
7W9U X-ray 216 A A/B/C/D 892-1052 PDB
AF-Q05397-F1 Predicted AlphaFoldDB

590 variants for Q05397

Variant ID(s) Position Change Description Diseaes Association Provenance
rs775490424
COSM1455191
CA4896107
2 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs765127207
CA4896106
3 A>G No ClinGen
ExAC
gnomAD
rs759346189
CA4896105
4 A>D No ClinGen
ExAC
rs886465125
CA372738943
5 Y>* No ClinGen
Ensembl
CA4896104
rs773588358
5 Y>F No ClinGen
ExAC
rs748382315
CA4896102
7 D>E No ClinGen
ExAC
gnomAD
CA4896103
rs772377748
7 D>H No ClinGen
ExAC
gnomAD
rs1600928471
CA372738922
9 N>H No ClinGen
Ensembl
CA4896101
rs774353002
9 N>S No ClinGen
ExAC
gnomAD
rs191376716
CA4896099
14 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs191376716
CA4896100
14 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA372738881
rs1466770413
15 N>D No ClinGen
TOPMed
gnomAD
CA372738877
rs1600927451
15 N>K No ClinGen
Ensembl
rs879079754
CA187277845
16 S>L No ClinGen
Ensembl
CA4896097
rs746193983
17 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs746193983
CA4896096
17 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1363478606
CA372738864
18 T>A No ClinGen
gnomAD
CA4896095
rs372781106
18 T>I No ClinGen
ESP
ExAC
gnomAD
rs1234636553
CA372738858
19 K>E No ClinGen
TOPMed
CA4896094
rs756906833
20 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs368816484
CA4896093
21 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777211634
CA4896092
22 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA4896091
rs757857508
24 T>A No ClinGen
ExAC
gnomAD
CA4896090
rs752695283
25 G>V No ClinGen
ExAC
rs187615056
CA4896089
26 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759434032
CA4896088
28 R>G No ClinGen
ExAC
gnomAD
CA4896085
rs762007942
30 P>H No ClinGen
ExAC
gnomAD
CA4896086
rs766185287
30 P>S No ClinGen
ExAC
gnomAD
rs1252621560
CA372738765
34 E>* No ClinGen
gnomAD
CA4896080
rs776011186
46 N>S No ClinGen
ExAC
TOPMed
gnomAD
COSM454100
rs374554975
CA4896079
47 S>N breast [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs994914693
COSM241299
CA187277844
48 E>G prostate [Cosmic] No ClinGen
cosmic curated
Ensembl
CA4896078
rs746349246
53 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA372738622
rs1201350980
54 S>I No ClinGen
TOPMed
gnomAD
CA372738605
rs1460434678
56 I>M No ClinGen
gnomAD
CA372738602
rs1193782301
57 R>K No ClinGen
gnomAD
rs1198241245
CA372738553
64 V>I No ClinGen
TOPMed
gnomAD
CA4896075
rs752213271
65 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs778633667
CA4896041
71 I>V No ClinGen
ExAC
gnomAD
rs141575134
CA4896040
74 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749253117
COSM749883
CA4896039
79 H>Y lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1156453284
CA372738026
81 A>G No ClinGen
gnomAD
CA4896037
rs755894891
81 A>S No ClinGen
ExAC
gnomAD
CA372738013
rs1163231407
83 Y>C No ClinGen
TOPMed
rs750277139
CA4896036
85 F>C No ClinGen
ExAC
TOPMed
gnomAD
CA187276615
rs906839481
85 F>V No ClinGen
TOPMed
COSM1096739
CA372737994
rs1179929431
86 R>C endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs567773573
CA4896035
86 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs567773573
CA4896034
86 R>L No ClinGen
1000Genomes
ExAC
gnomAD
CA187276613
rs56051231
89 H>P No ClinGen
Ensembl
rs55903738
CA187276612
89 H>Q No ClinGen
ExAC
gnomAD
rs879216797
CA187276610
91 R>W No ClinGen
TOPMed
gnomAD
rs1281085185
CA372737942
94 E>D No ClinGen
gnomAD
rs759551846
CA4896031
95 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA4896030
rs777025498
95 V>G No ClinGen
ExAC
gnomAD
CA4896028
rs761055281
96 H>R No ClinGen
ExAC
gnomAD
rs766867826
CA4896029
96 H>Y No ClinGen
ExAC
gnomAD
CA4896026
rs772561132
100 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1314361592
CA372737903
101 D>N No ClinGen
gnomAD
CA372737890
rs1360701056
102 M>I No ClinGen
gnomAD
CA4896025
rs747807231
102 M>V No ClinGen
ExAC
gnomAD
COSM294733
rs200017517
CA4896024
104 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA372737868
rs1385276601
106 S>G No ClinGen
gnomAD
CA187276608
rs868400822
107 V>L No ClinGen
Ensembl
CA372737830
rs748770277
111 Y>C No ClinGen
ExAC
gnomAD
rs748770277
CA4896022
111 Y>F No ClinGen
ExAC
gnomAD
rs779404026
CA4896021
113 L>F No ClinGen
ExAC
gnomAD
CA372737817
rs1228582279
113 L>H No ClinGen
TOPMed
rs756130164
CA4896020
114 A>V No ClinGen
ExAC
gnomAD
CA4896019
rs72683792
115 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA372737795
rs1214040757
117 P>S No ClinGen
gnomAD
CA187276606
rs71514694
118 E>K No ClinGen
Ensembl
rs1287065872
CA372737781
119 E>* No ClinGen
gnomAD
rs755415308
CA4896003
122 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1318342271
CA372738324
126 I>V No ClinGen
gnomAD
CA372738315
rs1402739520
127 R>C No ClinGen
TOPMed
gnomAD
CA372738314
rs1284764718
127 R>H No ClinGen
gnomAD
rs1344432751
CA372738300
129 L>S No ClinGen
gnomAD
rs1226596183
CA372738289
131 K>E No ClinGen
TOPMed
gnomAD
CA372738288
rs1226596183
131 K>Q No ClinGen
TOPMed
gnomAD
rs1189962612
CA372738265
134 L>P No ClinGen
TOPMed
CA372738247
rs1438045313
136 Q>H No ClinGen
gnomAD
rs775128110
CA4896001
136 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs369173327
CA4896000
138 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA187274856
rs878943368
138 T>I No ClinGen
TOPMed
rs369173327
CA372738228
138 T>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1479246001
CA372738170
142 P>S No ClinGen
TOPMed
rs1169038086
CA372738129
145 N>S No ClinGen
TOPMed
gnomAD
CA187274855
COSM1455188
rs765564003
COSM1455182
147 F>L large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
CA4895999
rs780931637
149 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1429836651
CA372737366
153 S>N No ClinGen
TOPMed
CA187272810
rs878966709
154 D>N No ClinGen
TOPMed
CA372737324
rs1440362392
158 E>D No ClinGen
gnomAD
rs374542141
CA4895977
159 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1477797368
CA372737298
162 Q>R No ClinGen
TOPMed
CA187272809
rs1033508203
164 D>N No ClinGen
Ensembl
rs1201671571
CA372737258
168 A>T No ClinGen
gnomAD
CA187272807
rs896058983
170 K>N No ClinGen
TOPMed
CA187272806
rs369459709
174 L>V No ClinGen
ESP
TOPMed
rs754644712
CA4895939
181 W>G No ClinGen
ExAC
gnomAD
CA4895938
rs200388173
184 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1400861495
CA372737136
184 R>W No ClinGen
gnomAD
CA4895936
rs760130442
185 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA4895935
rs573313509
186 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1460350833
CA372737121
187 A>T No ClinGen
gnomAD
rs41315637
CA187272785
192 S>P No ClinGen
Ensembl
CA372737072
rs1438980002
194 Y>H No ClinGen
gnomAD
CA372737044
rs1396796576
198 E>K No ClinGen
TOPMed
gnomAD
CA4895880
rs749783878
199 K>R No ClinGen
ExAC
gnomAD
CA372736752
rs1376039206
202 G>S No ClinGen
TOPMed
CA372736728
rs770081426
205 R>L No ClinGen
ExAC
gnomAD
COSM1096731
rs770081426
CA4895878
205 R>Q endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA4895877
rs372460267
209 K>E No ClinGen
ESP
ExAC
gnomAD
CA4895876
rs183169699
209 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1276016435
CA372736699
210 S>G No ClinGen
gnomAD
rs1399051217
CA372736676
213 D>A No ClinGen
gnomAD
CA187270994
rs776321840
213 D>E No ClinGen
Ensembl
CA372736664
rs1340790344
215 V>I No ClinGen
gnomAD
CA372736634
rs774549861
217 A>S No ClinGen
ExAC
gnomAD
rs774549861
CA4895865
217 A>T No ClinGen
ExAC
gnomAD
CA372736615
rs1431608233
220 L>V No ClinGen
gnomAD
CA4895864
rs764157561
222 K>R No ClinGen
ExAC
gnomAD
rs367712418
CA187269628
227 T>P No ClinGen
ESP
TOPMed
rs1197932692
CA372736532
232 A>G No ClinGen
TOPMed
gnomAD
CA4895860
rs746207802
232 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA4895861
rs746207802
232 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1197932692
CA372736530
232 A>V No ClinGen
TOPMed
gnomAD
rs1597053865
CA372736528
233 N>H No ClinGen
Ensembl
rs1184087334
CA372736504
236 R>T No ClinGen
TOPMed
rs746631635
CA4895857
240 I>T No ClinGen
ExAC
gnomAD
rs748110258
CA4895854
247 L>V No ClinGen
ExAC
gnomAD
rs374480150
CA4895852
254 D>N No ClinGen
ESP
ExAC
gnomAD
CA4895851
rs143848575
259 K>E No ClinGen
ESP
ExAC
gnomAD
CA4895850
rs766073665
259 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1162584235
CA372736289
265 S>N No ClinGen
gnomAD
CA187269580
rs149643582
266 W>* No ClinGen
ESP
rs374359484
CA4895833
267 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779901080
CA4895832
268 I>T No ClinGen
ExAC
gnomAD
rs1487082018
CA372736233
273 A>V No ClinGen
TOPMed
gnomAD
rs751799081
CA4895830
274 I>V No ClinGen
ExAC
gnomAD
CA187269579
rs1021091174
275 G>S No ClinGen
TOPMed
gnomAD
rs752827540
CA372736195
279 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA4895827
rs752827540
279 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1321512976
CA372736169
283 L>Q No ClinGen
gnomAD
rs760157730
CA4895825
284 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs878885002
CA187269577
287 G>S No ClinGen
Ensembl
rs766781906
CA4895823
289 N>S No ClinGen
ExAC
gnomAD
rs879104242
CA186589823
295 D>E No ClinGen
TOPMed
gnomAD
CA4895803
rs750875504
295 D>Y No ClinGen
ExAC
gnomAD
CA186589821
rs370107363
296 F>L No ClinGen
ESP
TOPMed
gnomAD
CA4895802
rs138310449
297 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA372333675
rs1359001216
298 Q>E No ClinGen
TOPMed
CA186589819
rs969827390
298 Q>R No ClinGen
TOPMed
CA4895801
rs761560501
300 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA372333655
rs1196636072
301 T>A No ClinGen
gnomAD
CA372333651
rs1482317412
301 T>I No ClinGen
TOPMed
CA372333637
rs1334223363
303 Q>H No ClinGen
gnomAD
rs1341784630
CA372333639
303 Q>R No ClinGen
gnomAD
CA4895799
rs768231879
306 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1472818823
CA372333595
309 D>A No ClinGen
TOPMed
rs1183103173
CA372333589
310 K>E No ClinGen
TOPMed
rs1566709424
CA372333579
311 D>G No ClinGen
Ensembl
CA372333582
rs1443621256
311 D>H No ClinGen
TOPMed
CA4895798
rs762326583
312 R>K No ClinGen
ExAC
gnomAD
rs1022860198
COSM223310
CA186589805
314 G>R skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA372333546
rs1305545982
316 L>I No ClinGen
TOPMed
gnomAD
CA4895797
rs775030051
321 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs878878686
CA186589800
321 A>V No ClinGen
Ensembl
rs745795776
CA4895795
323 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs748385105
CA4895792
324 P>L No ClinGen
ExAC
gnomAD
CA4895793
rs770648069
324 P>S No ClinGen
ExAC
gnomAD
rs1428245510
CA372333492
325 E>K No ClinGen
gnomAD
rs1187137215
CA372333303
326 P>L No ClinGen
gnomAD
CA186588706
rs976626614
329 V>M No ClinGen
Ensembl
rs541855089
CA4895772
330 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA4895771
rs373258896
331 A>T No ClinGen
ESP
ExAC
gnomAD
CA372333256
rs1487993702
331 A>V No ClinGen
TOPMed
gnomAD
CA186588694
rs147093212
332 P>S No ClinGen
ESP
TOPMed
gnomAD
rs1171090967
CA372333234
334 L>V No ClinGen
TOPMed
rs773028711
CA4895770
335 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs369812412
CA4895769
336 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1354010603
COSM749889
CA372333195
337 A>V endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA4895768
rs375118877
338 E>G No ClinGen
ESP
ExAC
rs780283460
CA4895767
339 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA4895762
rs751915058
351 V>G No ClinGen
ExAC
gnomAD
rs757803422
CA4895763
351 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA372332985
rs1468146310
354 T>N No ClinGen
gnomAD
rs878949064
CA186588652
355 S>L No ClinGen
TOPMed
rs1343946771
CA372332959
356 Q>R No ClinGen
TOPMed
rs1475725139
CA372332908
360 I>V No ClinGen
gnomAD
CA372332890
rs1420363106
361 R>T No ClinGen
gnomAD
rs750315960
CA4895733
365 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA4895732
rs767236561
366 G>D No ClinGen
ExAC
gnomAD
CA4895731
rs774254542
367 E>D No ClinGen
ExAC
gnomAD
CA186585492
rs771095551
368 R>Q No ClinGen
TOPMed
gnomAD
rs996717242
COSM1241631
CA186585495
368 R>W oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
rs763101680
CA186585486
369 A>T No ClinGen
gnomAD
rs1566505535
CA372332407
370 L>V No ClinGen
Ensembl
CA372332401
rs1383366541
371 P>S No ClinGen
Ensembl
rs868799354
CA186585479
372 S>L No ClinGen
Ensembl
CA372332390
rs1412839758
373 I>V No ClinGen
gnomAD
rs776940166
CA4895709
377 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4895708
rs766394705
378 N>K No ClinGen
ExAC
gnomAD
CA4895707
rs538944133
379 S>I No ClinGen
1000Genomes
ExAC
gnomAD
CA186583856
rs879092898
380 E>K No ClinGen
gnomAD
CA4895705
rs772684225
381 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA4895704
rs146526688
383 G>S No ClinGen
ESP
ExAC
gnomAD
CA372331797
rs140961245
384 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140961245
CA4895703
384 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs879163959
CA186583815
385 R>Q No ClinGen
gnomAD
rs1042391332
CA186583829
385 R>W No ClinGen
gnomAD
rs779715141
CA4895700
388 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4895698
rs745429526
389 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA372327626
rs1420245562
399 E>K No ClinGen
gnomAD
CA186569229
rs186394279
400 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA186569225
rs759201511
406 T>I No ClinGen
TOPMed
gnomAD
rs1469646201
CA372327511
406 T>P No ClinGen
gnomAD
CA372327491
rs1437923644
407 Y>S No ClinGen
gnomAD
CA372327480
rs1274444744
408 T>N No ClinGen
gnomAD
CA372327469
rs1231405103
409 M>R No ClinGen
TOPMed
gnomAD
CA186569219
rs888527537
409 M>V No ClinGen
Ensembl
rs1212172794
CA372326637
413 R>G No ClinGen
gnomAD
CA372326633
rs1446876848
413 R>K No ClinGen
TOPMed
rs201222140
CA186567314
414 D>N No ClinGen
Ensembl
rs1162192882
CA372326534
420 E>K No ClinGen
TOPMed
rs1313094981
CA372326522
421 R>G No ClinGen
gnomAD
CA372326509
rs1334497061
422 I>V No ClinGen
gnomAD
rs1274030744
CA372326484
423 E>D No ClinGen
gnomAD
rs1247173286
COSM1455161
CA372326458
426 R>* large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA4895562
rs200186976
426 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1394828889
CA372326451
427 C>R No ClinGen
Ensembl
rs761954797
CA4895561
428 I>T No ClinGen
ExAC
gnomAD
rs1423442775
CA372326332
435 D>G No ClinGen
TOPMed
rs1394847273
CA372326314
437 H>R No ClinGen
gnomAD
rs749425703
CA4895558
440 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4895557
rs780267021
443 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs781693451
CA4895535
446 N>S No ClinGen
ExAC
gnomAD
CA4895534
rs771308693
448 A>V No ClinGen
ExAC
gnomAD
rs778100779
CA4895532
450 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs150568425
CA4895530
451 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA4895529
rs778407602
453 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4895527
rs753752073
458 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1227047503
CA372325226
459 C>G No ClinGen
TOPMed
rs755989473
CA4895525
461 S>L No ClinGen
ExAC
gnomAD
rs1174728451
CA372325198
461 S>T No ClinGen
gnomAD
rs767353964
CA4895523
463 S>G No ClinGen
ExAC
gnomAD
CA186560882
rs369322976
463 S>N No ClinGen
ESP
TOPMed
rs143634132
CA4895522
464 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4895521
rs775802354
468 F>C No ClinGen
ExAC
gnomAD
rs937213601
CA186557110
475 M>V No ClinGen
TOPMed
COSM1096704
CA4895462
rs753953419
476 R>C endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA4895460
rs182075508
476 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4895461
rs182075508
476 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753953419
CA4895463
476 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA372324211
rs750472122
481 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1278231078
CA372324207
481 P>R No ClinGen
TOPMed
rs750472122
CA4895459
481 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA4895457
rs762301600
482 H>Y No ClinGen
ExAC
gnomAD
rs562435589
CA4895455
483 I>F No ClinGen
1000Genomes
ExAC
gnomAD
rs562435589
CA4895456
483 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA186557063
rs974857571
487 I>M No ClinGen
TOPMed
rs745417588
CA4895451
491 T>I No ClinGen
ExAC
TOPMed
rs769453941
CA4895452
491 T>S No ClinGen
ExAC
gnomAD
CA372324037
rs1315112229
493 N>S No ClinGen
TOPMed
CA372324015
rs1361201887
495 V>F No ClinGen
TOPMed
CA4895448
rs190197836
496 W>R No ClinGen
1000Genomes
ExAC
gnomAD
CA186557044
rs536913046
497 I>L No ClinGen
Ensembl
CA372323978
rs1219754498
498 I>T No ClinGen
TOPMed
rs199594538
CA186557041
501 L>V No ClinGen
TOPMed
gnomAD
rs1303285536
CA372323892
503 T>A No ClinGen
gnomAD
CA4895446
rs777640932
503 T>I No ClinGen
ExAC
gnomAD
rs1158008220
CA372323878
504 L>F No ClinGen
gnomAD
rs754121232
CA4895444
506 E>G No ClinGen
ExAC
gnomAD
rs1390972567
CA372323596
508 R>G No ClinGen
gnomAD
CA372323586
rs1437491021
509 S>A No ClinGen
TOPMed
CA372323552
rs1593305125
511 L>F No ClinGen
Ensembl
CA186555582
rs910105052
513 V>I No ClinGen
TOPMed
CA372323468
rs1246779814
515 K>T No ClinGen
TOPMed
gnomAD
rs878961416
CA186555571
516 Y>C No ClinGen
TOPMed
CA4895393
rs766018197
517 S>R No ClinGen
ExAC
gnomAD
CA4895394
rs146511319
517 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372323399
rs1482020051
519 D>Y No ClinGen
gnomAD
CA372323337
rs1450500637
523 L>F No ClinGen
gnomAD
rs772759882
CA4895391
524 I>V No ClinGen
ExAC
gnomAD
rs1268306062
CA372323257
528 Y>C No ClinGen
gnomAD
CA4895388
rs774027962
533 A>T No ClinGen
ExAC
rs746116314
CA4895386
540 K>R No ClinGen
ExAC
gnomAD
CA186554476
rs149781812
547 I>V No ClinGen
1000Genomes
rs748823989
CA186554461
549 A>T No ClinGen
gnomAD
CA372322714
rs1224702542
550 R>Q No ClinGen
TOPMed
rs1199666239
COSM3834134
CA372322717
550 R>W breast [Cosmic] No ClinGen
cosmic curated
gnomAD
rs775252275
CA4895367
555 S>F No ClinGen
ExAC
rs747186955
CA372322589
569 R>P No ClinGen
ExAC
TOPMed
rs747186955
CA4895365
569 R>Q No ClinGen
ExAC
TOPMed
rs1288479656
CA372322586
570 Y>H No ClinGen
gnomAD
rs375296546
CA372322204
573 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375296546
CA4895364
573 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4895349
rs146709950
586 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA186591793
rs867074714
590 A>S No ClinGen
Ensembl
CA186591791
rs1032760709
594 I>V No ClinGen
gnomAD
rs1433340978
CA372331449
597 R>Q No ClinGen
gnomAD
rs1338390440
CA372331444
598 R>C No ClinGen
TOPMed
CA186591789
rs111757839
600 T>A No ClinGen
Ensembl
CA372331426
rs1388184593
601 S>P No ClinGen
gnomAD
rs556823398
CA4895348
603 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4895347
rs775267050
605 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA4895345
rs760830207
608 F>L No ClinGen
ExAC
gnomAD
CA372330407
rs1245760109
612 M>T No ClinGen
gnomAD
rs1198955255
CA372330397
613 W>* No ClinGen
gnomAD
CA4895330
rs763526111
615 I>V No ClinGen
ExAC
gnomAD
rs1203576300
CA372330349
620 V>L No ClinGen
gnomAD
CA186590570
rs879153139
629 N>D No ClinGen
Ensembl
rs758344271
CA372330272
631 V>I No ClinGen
ExAC
gnomAD
CA4895329
rs758344271
631 V>L No ClinGen
ExAC
gnomAD
rs371607821
CA4895326
COSM3698851
633 G>S large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA4895324
rs767843214
634 R>L No ClinGen
ExAC
rs1306141002
CA372330091
648 P>L No ClinGen
gnomAD
rs990488105
CA186590553
650 T>A No ClinGen
TOPMed
gnomAD
rs990488105
CA372330074
650 T>S No ClinGen
TOPMed
gnomAD
rs774579534
CA4895322
651 L>F No ClinGen
ExAC
gnomAD
CA372330054
rs1565333274
652 Y>H No ClinGen
Ensembl
CA4895320
rs749841325
653 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA372330006
rs1478740608
655 M>T No ClinGen
gnomAD
CA372329989
rs1249036599
656 T>M No ClinGen
TOPMed
gnomAD
rs982040650
CA186590537
661 Y>C No ClinGen
TOPMed
gnomAD
rs1207074429
CA372329901
662 D>G No ClinGen
gnomAD
rs878970943
CA372329876
664 S>N No ClinGen
TOPMed
CA372329880
rs1278214915
664 S>R No ClinGen
gnomAD
CA186590532
rs878970943
664 S>T No ClinGen
TOPMed
CA372329863
rs1219994861
665 R>T No ClinGen
gnomAD
CA4895317
rs769106710
668 R>K No ClinGen
ExAC
gnomAD
CA186590507
rs973684789
668 R>S No ClinGen
Ensembl
rs973684789
CA372329837
668 R>S No ClinGen
Ensembl
CA4895316
rs781404930
670 T>A No ClinGen
ExAC
gnomAD
rs1351105118
CA372329800
674 A>T No ClinGen
gnomAD
rs1299753944
CA372329796
674 A>V No ClinGen
gnomAD
CA372329792
rs1445567759
675 Q>P No ClinGen
gnomAD
CA4895223
rs749458541
678 T>A No ClinGen
ExAC
gnomAD
rs1162534407
CA372328186
678 T>I No ClinGen
gnomAD
rs889246987
CA186581916
679 I>T No ClinGen
TOPMed
rs1029138063
CA186581913
681 E>V No ClinGen
TOPMed
CA372328148
rs1230422565
682 E>K No ClinGen
TOPMed
rs1295044393
CA372328098
684 K>N No ClinGen
TOPMed
CA4895221
rs756149985
690 R>C No ClinGen
ExAC
gnomAD
rs1011085024
CA186581905
690 R>H No ClinGen
TOPMed
rs750474201
CA4895220
691 M>V No ClinGen
ExAC
gnomAD
rs767962744
CA4895219
693 M>R No ClinGen
ExAC
gnomAD
CA372327879
rs1242335737
695 S>C No ClinGen
gnomAD
rs934380856
CA186581896
695 S>P No ClinGen
Ensembl
rs1194703270
CA372327820
698 Q>H No ClinGen
gnomAD
rs757773763
CA4895218
700 T>S No ClinGen
ExAC
gnomAD
CA4895217
rs751872119
702 S>F No ClinGen
ExAC
gnomAD
CA186581855
rs775241617
706 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA4895214
rs775241617
706 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA186581848
rs947056286
707 G>R No ClinGen
gnomAD
rs1329374344
CA372327697
708 S>P No ClinGen
gnomAD
CA372327677
rs1302594797
709 D>E No ClinGen
TOPMed
gnomAD
rs1405534204
CA372327634
712 P>S No ClinGen
gnomAD
CA4895211
rs776268765
713 P>A No ClinGen
ExAC
gnomAD
CA372325923
rs771970301
716 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA4895189
rs771970301
716 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs774124653
CA4895187
718 P>L No ClinGen
ExAC
gnomAD
rs373360191
CA186574512
719 G>R No ClinGen
ESP
TOPMed
rs1355852451
CA372325891
721 P>R No ClinGen
TOPMed
rs1233867372
CA372325880
723 P>A No ClinGen
gnomAD
CA4895184
rs781150551
723 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1031233329
CA186574479
724 R>K No ClinGen
Ensembl
rs1000214168
CA186574457
729 F>Y No ClinGen
Ensembl
CA372325832
rs1245206347
730 Y>C No ClinGen
TOPMed
rs866834724
CA186574452
731 P>S No ClinGen
gnomAD
rs145314554
CA4895179
733 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA372325813
rs1223191697
733 P>T No ClinGen
gnomAD
rs753483548
CA4895176
736 M>V No ClinGen
ExAC
gnomAD
CA4895175
rs765840716
737 V>I No ClinGen
ExAC
gnomAD
rs1274348811
CA372325767
739 T>I No ClinGen
gnomAD
rs143253214
CA4895174
740 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1437094978
CA372325425
744 V>L No ClinGen
TOPMed
gnomAD
rs1033303849
CA186571757
745 S>C No ClinGen
TOPMed
rs766952615
CA4895153
746 G>D No ClinGen
ExAC
gnomAD
CA4895152
rs202194364
747 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
CA372325402
rs1369775449
747 Y>C No ClinGen
TOPMed
gnomAD
rs751455281
CA4895151
748 P>R No ClinGen
ExAC
gnomAD
CA372325391
rs1591198931
748 P>S No ClinGen
Ensembl
rs762853642
CA372325353
751 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs762853642
CA4895149
751 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA4895148
rs775134788
753 I>F No ClinGen
ExAC
gnomAD
CA372325332
rs1382321037
753 I>S No ClinGen
gnomAD
rs766690067
CA4895147
754 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs200844973
CA186571718
754 T>P No ClinGen
Ensembl
rs760742342
CA4895146
755 A>T No ClinGen
ExAC
gnomAD
CA372325307
rs1403693308
755 A>V No ClinGen
gnomAD
rs1365497745
CA372325303
756 M>V No ClinGen
gnomAD
CA372325279
rs1483757610
757 A>V No ClinGen
TOPMed
CA4895144
rs139239813
760 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773439128
CA4895145
760 I>V No ClinGen
ExAC
gnomAD
CA372325232
rs1169957667
761 Y>C No ClinGen
gnomAD
CA4895142
rs775041249
764 Q>H No ClinGen
ExAC
gnomAD
rs748698963
CA4895143
764 Q>P No ClinGen
ExAC
gnomAD
rs748698963
CA372325196
764 Q>R No ClinGen
ExAC
gnomAD
rs1189415779
CA372325177
766 S>T No ClinGen
TOPMed
CA186571657
rs1038528814
767 L>F No ClinGen
TOPMed
rs749723758
CA4895140
770 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA4895138
rs199840851
775 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1392279941
CA372325016
778 P>R No ClinGen
TOPMed
gnomAD
rs1126498
CA186571623
778 P>S No ClinGen
ExAC
gnomAD
rs1126498
CA4895137
778 P>T No ClinGen
ExAC
gnomAD
rs756799160
CA4895135
780 E>D No ClinGen
ExAC
gnomAD
rs764077150
CA4895133
781 I>T No ClinGen
ExAC
gnomAD
rs751044509
CA4895134
781 I>V No ClinGen
ExAC
gnomAD
CA4895131
rs752542898
782 A>G No ClinGen
ExAC
gnomAD
rs141196660
RCV000968138
CA4895132
782 A>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA4895130
rs764882462
783 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs944677463
CA186571596
783 M>T No ClinGen
gnomAD
CA372324986
rs764882462
783 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA4895128
rs773530696
787 N>D No ClinGen
ExAC
gnomAD
COSM3951363
rs1332379703
CA372324953
787 N>S lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA372324949
rs1591189851
788 V>M No ClinGen
Ensembl
rs367667977
CA4895127
789 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1174376354
CA372324939
789 E>V No ClinGen
gnomAD
CA4895104
rs201643847
790 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4895105
rs763543656
790 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1319065776
CA372324507
791 S>A No ClinGen
TOPMed
gnomAD
CA4895103
rs185796736
791 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4895098
rs55799133
795 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1159030784
CA372324475
796 L>M No ClinGen
gnomAD
rs370847963
CA372324467
797 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4895097
rs370847963
797 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1162679761
CA372324460
799 I>V No ClinGen
gnomAD
CA372324445
rs1402400218
801 Q>* No ClinGen
TOPMed
rs754955242
CA4895094
802 V>M No ClinGen
ExAC
gnomAD
CA4895093
rs753756674
804 P>A No ClinGen
ExAC
gnomAD
CA4895092
rs779932988
805 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1437214210
CA372324407
807 L>P No ClinGen
TOPMed
CA4895091
rs756046730
807 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA186570096
rs112993991
808 M>T No ClinGen
Ensembl
CA4895090
rs751788258
808 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA372324383
rs1206283996
810 E>D No ClinGen
gnomAD
rs988016005
CA186570095
811 R>C No ClinGen
TOPMed
rs764342696
CA4895089
811 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs762989428
CA4895088
812 L>V No ClinGen
ExAC
gnomAD
rs765730249
COSM95115
CA4895086
814 R>Q lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA372324359
rs1225367710
815 Q>R No ClinGen
gnomAD
CA372324352
rs1591080581
816 Q>P No ClinGen
Ensembl
rs776992649
CA4895084
817 Q>R No ClinGen
ExAC
gnomAD
rs546619591
CA4895081
818 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA4895083
rs138189604
818 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA186570014
rs1040697891
821 E>D No ClinGen
TOPMed
rs1315872596
CA372324296
821 E>Q No ClinGen
TOPMed
CA372324279
rs1270650346
822 D>G No ClinGen
TOPMed
COSM1263333
CA4895079
rs150410292
824 R>C oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSM205380
CA4895078
rs200596356
824 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA372324232
rs1165762276
825 W>C No ClinGen
TOPMed
gnomAD
rs1373172195
CA372324162
831 R>G No ClinGen
TOPMed
gnomAD
rs1194624468
CA372324137
832 F>Y No ClinGen
gnomAD
rs377689571
CA4895061
836 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1001847937
CA186558424
836 D>V No ClinGen
Ensembl
rs773615646
CA4895060
837 V>M No ClinGen
ExAC
gnomAD
CA372321582
rs1336959698
838 R>S No ClinGen
TOPMed
rs146529989
CA186558397
840 S>P No ClinGen
ESP
TOPMed
rs767144547
CA4895059
841 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA186558355
rs745523477
842 G>D No ClinGen
Ensembl
rs1428876959
CA372321509
844 I>S No ClinGen
TOPMed
rs1336040836
CA372321498
846 R>G No ClinGen
gnomAD
CA4895057
rs773752021
848 D>Y No ClinGen
ExAC
gnomAD
CA4895056
rs768237414
850 S>G No ClinGen
ExAC
gnomAD
rs748772540
CA4895055
853 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs775614348
CA4895054
854 P>L No ClinGen
ExAC
gnomAD
rs569413912
CA4895041
857 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA372332188
rs1443013932
860 I>M No ClinGen
gnomAD
CA372332192
rs1589461937
860 I>T No ClinGen
Ensembl
CA4895040
rs557669175
860 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA186580208
rs878874556
863 P>L No ClinGen
Ensembl
CA372332125
rs1184349697
865 G>D No ClinGen
gnomAD
rs772922768
CA4895013
869 P>S No ClinGen
ExAC
gnomAD
CA4895012
rs369938140
870 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4895010
rs780152984
871 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA372331897
rs1315190906
872 P>S No ClinGen
gnomAD
rs1589406359
CA372331851
875 K>N No ClinGen
Ensembl
CA4895009
rs376658357
876 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA186579498
rs376658357
876 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372331843
rs1479492547
876 P>T No ClinGen
gnomAD
CA372331827
rs1319341637
877 P>L No ClinGen
gnomAD
rs1260657059
CA372331821
878 R>C No ClinGen
gnomAD
CA372331814
rs1266242346
878 R>H No ClinGen
TOPMed
CA372331786
rs1302498220
881 A>T No ClinGen
gnomAD
CA186579496
rs201355515
881 A>V No ClinGen
1000Genomes
gnomAD
rs778270156
CA4895004
882 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs778270156
CA4895005
882 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA372331772
rs140371105
883 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4895002
COSM1222481
rs140371105
883 G>S large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1468189389
CA372331757
884 H>P No ClinGen
TOPMed
CA372331721
rs1174295807
887 S>I No ClinGen
gnomAD
CA4895001
rs374916423
887 S>R No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA372331704
rs1378129989
889 A>T No ClinGen
gnomAD
CA4894999
rs542542126
COSM3834131
889 A>V breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA4894998
rs766342761
892 S>R No ClinGen
ExAC
gnomAD
rs1458778686
CA372331662
892 S>R No ClinGen
TOPMed
gnomAD
CA372331658
rs1240736886
893 S>N No ClinGen
gnomAD
CA372331649
rs879069483
894 P>L No ClinGen
gnomAD
CA186579471
rs879069483
894 P>R No ClinGen
gnomAD
rs1257077488
CA372331622
898 Y>F No ClinGen
TOPMed
gnomAD
CA4894997
rs746135848
898 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA4894996
rs773045656
899 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs575152000
CA4894993
900 E>K No ClinGen
1000Genomes
TOPMed
gnomAD
CA4894992
rs553687076
903 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA186575382
rs17852610
905 Q>P No ClinGen
Ensembl
rs1206019632
CA372330578
907 Q>R No ClinGen
TOPMed
rs1488513998
CA372330569
908 E>A No ClinGen
gnomAD
CA186575379
rs1009418037
909 I>V No ClinGen
Ensembl
CA4894939
rs745452359
912 P>A No ClinGen
ExAC
gnomAD
rs878943668
CA186575370
912 P>R No ClinGen
gnomAD
rs757236528
CA4894937
913 P>R No ClinGen
ExAC
gnomAD
CA186575362
rs1053659884
916 N>H No ClinGen
Ensembl
CA4894936
rs146729199
916 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372330523
rs146729199
916 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1472886111
CA372330515
917 L>R No ClinGen
TOPMed
rs757750103
CA4894932
919 R>Q No ClinGen
ExAC
gnomAD
CA4894933
rs374415488
919 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760973444
CA186575329
920 S>L No ClinGen
ExAC
gnomAD
rs760973444
CA4894931
920 S>W No ClinGen
ExAC
gnomAD
rs1165640775
CA372330473
924 V>M No ClinGen
gnomAD
rs1421436539
CA372330455
926 E>D No ClinGen
gnomAD
CA4894926
rs149065728
929 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs908779397
CA186575295
933 K>I No ClinGen
Ensembl
CA372330167
rs1197013420
934 A>T No ClinGen
TOPMed
gnomAD
rs745501327
CA4894922
937 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA4894921
rs61733047
940 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4894920
rs370304120
941 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA372330049
rs1256814224
942 I>T No ClinGen
gnomAD
CA372330033
rs1319129196
943 Q>R No ClinGen
gnomAD
rs965178568
CA186575224
949 E>D No ClinGen
Ensembl
CA186575218
rs775660089
952 P>H No ClinGen
Ensembl
CA186575190
rs878880329
953 M>I No ClinGen
TOPMed
gnomAD
rs1019348642
CA186575212
953 M>V No ClinGen
TOPMed
gnomAD
CA186572781
rs878953671
958 G>D No ClinGen
Ensembl
CA372329748
rs1465438686
958 G>S No ClinGen
gnomAD
CA372329734
rs1378002074
960 A>T No ClinGen
gnomAD
rs1177884464
CA372329717
963 T>A No ClinGen
gnomAD
rs771958783
CA4894899
963 T>I No ClinGen
ExAC
gnomAD
rs778889175
CA372329684
968 V>E No ClinGen
ExAC
gnomAD
CA4894897
rs778889175
968 V>G No ClinGen
ExAC
gnomAD
CA372329676
rs1220476492
969 D>E No ClinGen
TOPMed
CA372329659
rs1256274797
972 I>V No ClinGen
TOPMed
rs139442064
CA4894894
973 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4894893
rs182400745
973 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
rs1198818854
CA585330292
973 P>L No ClinGen
gnomAD
CA4894892
rs751652904
974 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1588900415
CA372329646
974 L>P No ClinGen
Ensembl
rs758872638
CA4894890
976 P>Q No ClinGen
ExAC
gnomAD
CA372329636
rs758872638
976 P>R No ClinGen
ExAC
gnomAD
CA372329611
rs1588899130
980 H>P No ClinGen
Ensembl
rs942291704
CA186572720
980 H>Q No ClinGen
gnomAD
rs878926321
CA186572714
981 R>* No ClinGen
gnomAD
CA4894889
rs753234670
981 R>Q No ClinGen
ExAC
gnomAD
rs773927621
COSM99109
CA4894855
983 I>T lung stomach [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1304767919
CA372328674
987 Q>* No ClinGen
gnomAD
CA372328661
rs1194653703
988 K>E No ClinGen
TOPMed
rs1425011611
CA372328648
988 K>N No ClinGen
gnomAD
CA372328512
rs1386740836
999 N>D No ClinGen
TOPMed
rs527481094
CA4894851
999 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4894850
rs745602303
1002 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA372328435
rs1426884297
1004 A>G No ClinGen
gnomAD
rs914428928
CA186569104
1004 A>S No ClinGen
Ensembl
CA4894847
rs748295072
1007 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1563724872
CA372328367
1009 M>L No ClinGen
Ensembl
rs778949241
CA4894846
1009 M>T No ClinGen
ExAC
gnomAD
CA372328361
rs1588592787
1010 T>P No ClinGen
Ensembl
rs990008323
CA186569088
1011 S>N No ClinGen
gnomAD
rs1234449412
CA372328333
1014 Q>E No ClinGen
gnomAD
CA372328306
rs1187668800
1017 K>R No ClinGen
TOPMed
gnomAD
rs972143590
CA186569073
1019 Q>K No ClinGen
TOPMed
CA4894843
rs780383970
1026 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA372328232
rs1296372669
1028 A>V No ClinGen
TOPMed
CA4894839
rs761550309
1030 D>G No ClinGen
ExAC
gnomAD
CA186569048
rs1019144207
1031 A>T No ClinGen
TOPMed
rs1326583345
CA372328167
1035 L>F No ClinGen
TOPMed
gnomAD
CA4894838
rs751168363
1036 D>Y No ClinGen
ExAC
gnomAD
CA372328112
rs1251264818
1038 I>T No ClinGen
TOPMed
CA4894837
rs763671069
1039 D>Y No ClinGen
ExAC
gnomAD
rs1462015214
CA372328059
1041 A>T No ClinGen
TOPMed
CA372328048
rs1428933882
1041 A>V No ClinGen
gnomAD
rs762515280
CA372328013
1043 L>P No ClinGen
ExAC
gnomAD
rs762515280
CA4894836
1043 L>R No ClinGen
ExAC
gnomAD
CA4894834
rs545275720
1046 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1241735984
CA372327929
1047 G>R No ClinGen
TOPMed
rs759379411
CA4894833
1048 Q>R No ClinGen
ExAC
gnomAD
COSM205373
rs746222859
CA4894832
1049 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA372327884
rs746222859
1049 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs17852609
CA186569027
1051 P>R No ClinGen
TOPMed
rs1168178149
CA372327835
1052 H>Y No ClinGen
TOPMed

1 associated diseases with Q05397

Without disease ID

11 regional properties for Q05397

Type Name Position InterPro Accession
domain FERM domain 35 - 355 IPR000299
domain Protein kinase domain 422 - 680 IPR000719
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 422 - 676 IPR001245
domain Focal adhesion kinase, targeting (FAT) domain 914 - 1045 IPR005189
active_site Tyrosine-protein kinase, active site 542 - 554 IPR008266
binding_site Protein kinase, ATP binding site 428 - 454 IPR017441
domain FERM central domain 135 - 250 IPR019748
domain Band 4.1 domain 31 - 258 IPR019749
domain Tyrosine-protein kinase, catalytic domain 422 - 676 IPR020635
domain Focal adhesion kinase, N-terminal 35 - 130 IPR041390
domain FAK1/PYK2, FERM domain C-lobe 254 - 364 IPR041784

Functions

Description
EC Number 2.7.10.2 Protein-tyrosine kinases
Subcellular Localization
  • Cell junction, focal adhesion
  • Cell membrane ; Peripheral membrane protein ; Cytoplasmic side
  • Cytoplasm, perinuclear region
  • Cytoplasm, cell cortex
  • Cytoplasm, cytoskeleton
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Nucleus
  • Cytoplasm, cytoskeleton, cilium basal body
  • Cytoplasm
  • Constituent of focal adhesions
  • Detected at microtubules
PANTHER Family PTHR46221 FERM AND PDZ DOMAIN-CONTAINING PROTEIN FAMILY MEMBER
PANTHER Subfamily PTHR46221:SF8 NON-SPECIFIC PROTEIN-TYROSINE KINASE
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

12 GO annotations of cellular component

Name Definition
cell cortex The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
ciliary basal body A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendritic spine A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
extrinsic component of cytoplasmic side of plasma membrane The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
stress fiber A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber.

11 GO annotations of molecular function

Name Definition
actin binding Binding to monomeric or multimeric forms of actin, including actin filaments.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
integrin binding Binding to an integrin.
JUN kinase binding Binding to JUN kinase, an enzyme that catalyzes the phosphorylation and activation of members of the JUN family.
non-membrane spanning protein tyrosine kinase activity Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein phosphatase binding Binding to a protein phosphatase.
protein serine/threonine/tyrosine kinase activity Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
SH2 domain binding Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class.
signaling receptor binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

50 GO annotations of biological process

Name Definition
angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
axon guidance The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cell motility Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another.
detection of muscle stretch The series of events by which a muscle stretch stimulus is received by a cell and converted into a molecular signal.
ephrin receptor signaling pathway The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
epidermal growth factor receptor signaling pathway The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
establishment of cell polarity The specification and formation of anisotropic intracellular organization or cell growth patterns.
Fc-gamma receptor signaling pathway involved in phagocytosis An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes.
growth hormone receptor signaling pathway The series of molecular signals generated as a consequence of growth hormone receptor binding to its physiological ligand.
heart morphogenesis The developmental process in which the heart is generated and organized. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
integrin-mediated signaling pathway The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
negative regulation of anoikis Any process that stops, prevents or reduces the frequency, rate or extent of anoikis.
negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cell-cell adhesion Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell.
netrin-activated signaling pathway The series of molecular signals initiated by the binding of a netrin protein to its receptor on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Netrins can act as chemoattractant signals for some cells and chemorepellent signals for others. Netrins also have roles outside of cell and axon guidance.
peptidyl-tyrosine phosphorylation The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
placenta development The process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.
positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of fibroblast migration Any process that increases the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium.
positive regulation of macrophage chemotaxis Any process that increases the rate, frequency or extent of macrophage chemotaxis. Macrophage chemotaxis is the movement of a macrophage in response to an external stimulus.
positive regulation of macrophage proliferation Any process that activates or increases the frequency, rate or extent of macrophage proliferation.
positive regulation of phosphatidylinositol 3-kinase activity Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
positive regulation of phosphatidylinositol 3-kinase signaling Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of protein kinase activity Any process that activates or increases the frequency, rate or extent of protein kinase activity.
positive regulation of protein kinase B signaling Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of ubiquitin-dependent protein catabolic process Any process that activates or increases the frequency, rate or extent of ubiquitin-dependent protein catabolic process.
positive regulation of wound healing Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.
protein autophosphorylation The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.
regulation of cell adhesion mediated by integrin Any process that modulates the frequency, rate, or extent of cell adhesion mediated by integrin.
regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of cell shape Any process that modulates the surface configuration of a cell.
regulation of cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.
regulation of endothelial cell migration Any process that modulates the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium.
regulation of epithelial cell migration Any process that modulates the frequency, rate or extent of epithelial cell migration.
regulation of focal adhesion assembly Any process that modulates the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions.
regulation of GTPase activity Any process that modulates the rate of GTP hydrolysis by a GTPase.
regulation of osteoblast differentiation Any process that modulates the frequency, rate or extent of osteoblast differentiation.
regulation of protein phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein.
regulation of substrate adhesion-dependent cell spreading Any process that modulates the frequency, rate or extent of substrate adhesion-dependent cell spreading.
signal complex assembly The aggregation, arrangement and bonding together of a set of components to form a complex capable of relaying a signal within a cell.
transforming growth factor beta receptor signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
transmembrane receptor protein tyrosine kinase signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
vascular endothelial growth factor receptor signaling pathway The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

32 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q00944 PTK2 Focal adhesion kinase 1 Gallus gallus (Chicken) EV
P43405 SYK Tyrosine-protein kinase SYK Homo sapiens (Human) EV
P43403 ZAP70 Tyrosine-protein kinase ZAP-70 Homo sapiens (Human) EV
Q13882 PTK6 Protein-tyrosine kinase 6 Homo sapiens (Human) EV
P09769 FGR Tyrosine-protein kinase Fgr Homo sapiens (Human) SS
P07948 LYN Tyrosine-protein kinase Lyn Homo sapiens (Human) SS
P06241 FYN Tyrosine-protein kinase Fyn Homo sapiens (Human) SS
P12931 SRC Proto-oncogene tyrosine-protein kinase Src Homo sapiens (Human) EV
P06239 LCK Tyrosine-protein kinase Lck Homo sapiens (Human) EV
P51451 BLK Tyrosine-protein kinase Blk Homo sapiens (Human) SS
P08631 HCK Tyrosine-protein kinase HCK Homo sapiens (Human) EV
P07947 YES1 Tyrosine-protein kinase Yes Homo sapiens (Human) SS
P42685 FRK Tyrosine-protein kinase FRK Homo sapiens (Human) EV
Q08881 ITK Tyrosine-protein kinase ITK/TSK Homo sapiens (Human) EV
Q06187 BTK Tyrosine-protein kinase BTK Homo sapiens (Human) EV
P51813 BMX Cytoplasmic tyrosine-protein kinase BMX Homo sapiens (Human) SS
P42680 TEC Tyrosine-protein kinase Tec Homo sapiens (Human) SS
P42679 MATK Megakaryocyte-associated tyrosine-protein kinase Homo sapiens (Human) SS
P41240 CSK Tyrosine-protein kinase CSK Homo sapiens (Human) SS
Q14289 PTK2B Protein-tyrosine kinase 2-beta Homo sapiens (Human) PR
Q13470 TNK1 Non-receptor tyrosine-protein kinase TNK1 Homo sapiens (Human) PR
Q07912 TNK2 Activated CDC42 kinase 1 Homo sapiens (Human) EV
P16591 FER Tyrosine-protein kinase Fer Homo sapiens (Human) PR
Q6J9G0 STYK1 Tyrosine-protein kinase STYK1 Homo sapiens (Human) PR
P42684 ABL2 Tyrosine-protein kinase ABL2 Homo sapiens (Human) SS
P00519 ABL1 Tyrosine-protein kinase ABL1 Homo sapiens (Human) EV
Q9QVP9 Ptk2b Protein-tyrosine kinase 2-beta Mus musculus (Mouse) PR
P34152 Ptk2 Focal adhesion kinase 1 Mus musculus (Mouse) SS
Q99ML2 Tnk1 Non-receptor tyrosine-protein kinase TNK1 Mus musculus (Mouse) PR
P70600 Ptk2b Protein-tyrosine kinase 2-beta Rattus norvegicus (Rat) PR
O35346 Ptk2 Focal adhesion kinase 1 Rattus norvegicus (Rat) SS
Q95YD4 kin-32 Inactive tyrosine-protein kinase kin-32 Caenorhabditis elegans PR
10 20 30 40 50 60
MAAAYLDPNL NHTPNSSTKT HLGTGMERSP GAMERVLKVF HYFESNSEPT TWASIIRHGD
70 80 90 100 110 120
ATDVRGIIQK IVDSHKVKHV ACYGFRLSHL RSEEVHWLHV DMGVSSVREK YELAHPPEEW
130 140 150 160 170 180
KYELRIRYLP KGFLNQFTED KPTLNFFYQQ VKSDYMLEIA DQVDQEIALK LGCLEIRRSY
190 200 210 220 230 240
WEMRGNALEK KSNYEVLEKD VGLKRFFPKS LLDSVKAKTL RKLIQQTFRQ FANLNREESI
250 260 270 280 290 300
LKFFEILSPV YRFDKECFKC ALGSSWIISV ELAIGPEEGI SYLTDKGCNP THLADFTQVQ
310 320 330 340 350 360
TIQYSNSEDK DRKGMLQLKI AGAPEPLTVT APSLTIAENM ADLIDGYCRL VNGTSQSFII
370 380 390 400 410 420
RPQKEGERAL PSIPKLANSE KQGMRTHAVS VSETDDYAEI IDEEDTYTMP STRDYEIQRE
430 440 450 460 470 480
RIELGRCIGE GQFGDVHQGI YMSPENPALA VAIKTCKNCT SDSVREKFLQ EALTMRQFDH
490 500 510 520 530 540
PHIVKLIGVI TENPVWIIME LCTLGELRSF LQVRKYSLDL ASLILYAYQL STALAYLESK
550 560 570 580 590 600
RFVHRDIAAR NVLVSSNDCV KLGDFGLSRY MEDSTYYKAS KGKLPIKWMA PESINFRRFT
610 620 630 640 650 660
SASDVWMFGV CMWEILMHGV KPFQGVKNND VIGRIENGER LPMPPNCPPT LYSLMTKCWA
670 680 690 700 710 720
YDPSRRPRFT ELKAQLSTIL EEEKAQQEER MRMESRRQAT VSWDSGGSDE APPKPSRPGY
730 740 750 760 770 780
PSPRSSEGFY PSPQHMVQTN HYQVSGYPGS HGITAMAGSI YPGQASLLDQ TDSWNHRPQE
790 800 810 820 830 840
IAMWQPNVED STVLDLRGIG QVLPTHLMEE RLIRQQQEME EDQRWLEKEE RFLKPDVRLS
850 860 870 880 890 900
RGSIDREDGS LQGPIGNQHI YQPVGKPDPA APPKKPPRPG APGHLGSLAS LSSPADSYNE
910 920 930 940 950 960
GVKLQPQEIS PPPTANLDRS NDKVYENVTG LVKAVIEMSS KIQPAPPEEY VPMVKEVGLA
970 980 990 1000 1010 1020
LRTLLATVDE TIPLLPASTH REIEMAQKLL NSDLGELINK MKLAQQYVMT SLQQEYKKQM
1030 1040 1050
LTAAHALAVD AKNLLDVIDQ ARLKMLGQTR PH